ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2064G>A (p.Glu688=)

dbSNP: rs587784433
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147613 SCV000195062 uncertain significance Developmental and epileptic encephalopathy, 5 2013-08-27 criteria provided, single submitter clinical testing

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